Sickle Cell Anemia: The Course and Impact
The past century has seen a significant increase in diversity across the United States. Approximately 36% of the population belongs to an ethnic or racial minority group according to the most recent census information. For the majority of the American population, infant mortality has been reduced and life expectancy has significantly increased. Health indicators such as these show improvement but minorities still continue to experience a disproportionate burden of death, disability, preventable disease, access to care, and treatment options. The disparities become even more pronounced when looking at awareness and treatment for particular diseases that are specific to a minority group. Sickle
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Etiology
Hemoglobin is a protein within erythrocytes responsible for binding, carrying, and delivering oxygen throughout the body. These disorders are inherited and therefore not contagious. For an individual to have sickle cell anemia each of their parents must have an abnormal hemoglobin gene and both of these genes must be expressed.
All of the cells within the tissues of the body need a regular supply of oxygen to function. The hemoglobin found in red blood cells (RBC’s) are essential for the proper transport of oxygen molecules. They bind oxygen in the lungs and carry to every tissue within the body. Due to the structure of hemoglobin, normal RBC’s are donut shaped with a concaved center. This flexible shape is what allows the BRC’s to move freely into very small spaces such as capillaries where they will deliver their oxygen. Sickle cell anemia or other diseases that fall within the broader group of disorders characterized by SCD describe conditions where the protein (hemoglobin) has misfolded and altered the shape of the cell. Sickle hemoglobin allows for the formation of stiff rods within the red blood cell giving it a sickle, or crescent shape. This new shape is not flexible and can block or slow the flow of blood. When this occurs, oxygen cannot reach its intended tissues. This results in severe pain called crises, and these attacks occur
Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle - that's where the disease gets its name. The shape
Sickle Cell Anemia is an inherited form of anemia, a condition in which there isn’t enough healthy red blood cells to carry sufficient oxygen throughout your body. Normally a person has flexible and round blood cells. With Sickle Cell anemia, Hemoglobin molecules in red blood cells, that carry oxygen in the body, are defective causing some of the red blood cells to change and form a sickle, or crescent moon shape.
Sickle Cell anemia is a group of inherited red blood cell disorders, or a collection of recessive genetic disorders characterized by a hemoglobin variant called Hb S. Normal red blood cells are round like doughnuts, and they move through small blood tubes in the body to deliver oxygen. Sickle red blood cells become hard, sticky and shaped like sickles used to cut wheat. When these hard and pointed red cells go through the small blood tube, they clog the flow and break apart. This can cause pain, damage and a low blood count, or anemia. There is a substance in the red cell called hemoglobin that carries oxygen inside the cell. One little change in this substance causes the hemoglobin to form long hard rods in the red cell when it gives
In a person that suffers from sickle cell disease, the red blood cells take on a crescent shape as they move through the body and lose oxygen. These sickled cells get stuck together in the small blood vessels and cause clots that can end up damaging organs. When
Sickle cell anemia (SCA) is an inherited blood disease which causes normal, round, healthy red blood cells to transform into sickle-shaped cells. Normal red blood cells are flexible and can easily pass through capillaries to bring oxygen to different parts of the body. However, sickle cells are fragile, and can easily die, leading to anemia (red blood cell deficiency). SCA can also cause blood vessel occlusion (blockage of blood vessels), tissue infarctions (death due to lack of oxygen), bone, joint, and abdominal pain, yellow eyes and skin, pale skin, delayed growth, increased risk of infections, and damage to organs. The disease is passed on by autosomal recessive inheritance, which means both parents of a child must have the defective gene for the child to be affected. If only one gene is inherited, the victim becomes a carrier of the sickle cell trait, producing only some sickle cells with little or no symptoms. This means two people with the trait have a 25% chance of having a baby with sickle cell disease, 25% chance of them having no defects, and 50% chance of the baby becoming a carrier as well. When the gene is inherited, it mutates the beta (β) globin gene in chromosome 11, changing the hemoglobins produced using instructions from the gene from a healthy hemoglobin A (Hb A) to a mutated hemoglobin S (Hb S). Many tests can be done to check for sickle cell disease, the most common being an ordinary blood test, where the blood is examined for hemoglobin S. If the
Sickle-cell Anemia is a disorder that is typically inherited from a person's parents. Sickle-cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin (haemoglobin S) that is found in red blood cells. In such a condition the red blood cells contort into a sickle shape. The affected cells die early which results to a shortage of healthy red blood cells and can block blood flow causing pain. The disease s caused by gene mutation through the process of substitution. In the Sickle-cell condition one Amino Acid; glutamic acid is always replaced by another acid valine. This happens in each of the two polypeptide chains of the haemoglobin molecule.This alteration results to a haemoglobin type S that is defective and is genetically
The term sickle refers to the fact that the red blood cells take on a sickle cell shape, instead of their normal biconcave shape (1). The cells can switch between the sickle shape and their normal biconcave shape (2). Sickled cells lose their pliability making it hard for the red blood cells to move through the smaller blood vessels (1). In their abnormal state they become more likely to adhere to the endothelium of the smaller vessels, causing clots to form and the possibility of stroke (2).
Sickle Cell disease also known as SCD is a genetic disease of a person’s red blood cells. The shape of a normal person’s RBC is shaped like a disk. This shape of the red blood cells allows for the flexibility that helps the cells move through blood vessels.
The disease I choose to talk about is Sickle Cell anemia, which is a blood disease that is prevalent among the African American race. This disease is interesting to me because it is a hereditary disease, so it can only be contracted if your parents have the disease. Sickle Cell anemia is caused by abnormal hemoglobin, the red blood cells in your body contain two vital hemoglobin molecules, a protein that carries the oxygen through your blood to travel throughout the body. People with sickle cell anemia, they have two copies of abnormal hemoglobin referred to as hemoglobin S. The molecule is what causes the problems within the red blood cells, rendering them unable to properly complete the process of carrying oxygen where it needs to go.
When this happens, oxygen can’t reach nearby tissues. According to United Heart, Lung, Blood Institute. The sickle hemoglobin forms stiff rods inside the red blood cell forcing it to become a crescent shape cell.
Sickle cell disorders are a group of inherited disorders where adult haemoglobin (HbA) is replaced by sickle haemoglobin (HbS) due to the substitution of glutamic acid by valine at the position 6 of the beta globin chains3. In addition, these disorders can be of various conditions, however, we will mostly on the two most known conditions which are sickle cell anaemia (HbSS) and sickle cell trait (HbAS). The other conditions are those where sickle cell disorders is associated with other disorders such as beta thalassaemia or haemoglobin C (HbSC). Sickle cell anaemia refers to the form of sickle cell disorders where the patient receives a copy of the mutated gene from each of his parents (homozygosity) whereas in sickle cell trait, the individual only gets one copy of the mutated gene from one his parents
Sickle-cell disease majorly affects the hemoglobin that is present in our blood. The job of hemoglobin is to help transport oxygen and carbon dioxide to and from the cells throughout our body. Hemoglobin is present specifically in our red blood cells. Each red blood cell contains two hundred and eighty million hemoglobin molecules. Red blood cells normal shape is a biconcave shape because of the lack of many organelles and a nucleus. The shape is so important to a red blood cells functioning that if it is not shaped normally it has major consequences. The shape helps them to fit through capillaries easier and also allows for an increased surface area which results in easier gas exchange. Sickle-cell disease is a genetic disease that causes issues in the oxygen/carbon dioxide carrying hemoglobin molecules that are present in our red blood cells.
Sickle cell anemia is a disease that deals with hemoglobin, the protein that aids in oxygen transport from organ to organ, in red blood cells. Normally red blood cells have a biconcave shape that attributes to a maximum capacity of hemoglobin, but in cases of sickle cell anemia, red blood cells are structured, fragile, and crescent-shaped, minimizing the capacity of hemoglobin, creating an obstacle for them not to rupture, and making it difficult for them to travel through some blood vessels. Because of the irregular shape of effected red blood cells, people with sickle cell anemia are more prone to form blood clots causing organ damage.
Red blood cells deliver oxygen throughout the body, deliver carbon dioxide to the lungs and other nutrients for the body (Bailey, 2013). They have the protein hemoglobin A (“What is…”, 2015). Normal red blood cells can live up to 120 days (“What is…”, 2015). Normal red blood cells are disc-shaped or bi-concaved. This shape helps with the cells’ ability to move through all sizes of blood vessels and capillaries in the body to deliver oxygen and other nutrients (“What is…”, 2015). Red blood cells transport is an example of passive transport (Bailey, 2013). Contrary, sickle cells are crescent shaped. These cells form stiff rods within the cell creating that ‘sickle’ shape (“What is…”, 2015). The cellular transport of sickle cells is difficult because of its shape. Sickle cells cannot flow as easily through blood vessels and capillaries. They can cause blood vessel blockages which can stop blood flow (“What is the difference?”, 2008). Without the normal flow of blood, oxygen is not delivered. Oxygen deficiency can cause many problems in the body. Lack of oxygen can cause severe pain attacks called pain crises for sickle cell anemia patients (“What is…”, 2015). Organ damage can also occur. Most sickle cells live up to 20 days; because of their shape, they burst easily (“What is…”, 2015). The number of red blood cells is lower in sickle cell anemia patients because the body has a hard time keeping up with how fast cells are being
A serious health condition that represents a silent killer of children is sickle cell disease. This autosomal recessive disorder is multisystemic and commonly accompanied by acute illness episodes and progressive organ damage.27 Commonly fatal,8 it is considered one of the most “common severe monogenic disorders in the world.”27 Sickle cell disease describes a group of genetic conditions that are the product of either homozygous inheritance of the sickle cell gene or heterozygous inheritance of the sickle cell gene with another gene. 29 There are three major variations of sickle cell disease in African ethnic populations, with sickle cell anemia being most common representing about 70% of all cases.27 Sickle cell anemia solely refers to the homozygosity for the beta-S allele (HbS).33The second major form of sickle cell disease is hemoglobin SC disease (HbSC) which has coinheritances of the beta-S and beta-C alleles. The third form,HbS/Beta-thalassemia, occurs from